Entrez 1181 | Ensembl ENSG00000114859 | |
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Aliases CLCN2, CIC-2, CLC2, ECA2, ECA3, EGI11, EGI3, EGMA, EJM6, EJM8, LKPAT, clC-2, chloride voltage-gated channel 2 External IDs MGI: 105061 HomoloGene: 3213 GeneCards: CLCN2 | ||
Chloride channel protein 2 is a protein that in humans is encoded by the CLCN2 gene. Mutations of this gene have been found to cause leukoencephalopathy (PMID 23707145) and Idiopathic generalised epilepsy (OMIM: 600699). CLCN2 contains a transmembrane region that is involved in chloride ion transport as well two intracellular copies of the CBS domain.
References
CLCN2 Wikipedia(Text) CC BY-SA